1/34. Sturge--Weber syndrome: report of an unusual cutaneous distribution.This is an 11 month old girl who has been referred to our institute for a seizure disorder. Her physical examination showed angiomas on the left side of her face, and more extensive and prominent ones on her palms and soles. Her right face and arm were smaller than the left, associated with hypotonia and moderate weakness in the right forearm. Computerized tomography of head showed intracranial calcification in the left fronto-parietal region, and brain MRI, with gadolinium, revealed an extensive leptomeningeal angioma over the entire left hemisphere. This case was diagnosed as sturge-weber syndrome with unusual cutaneous manifestations.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/34. Intracranial calcification mimicking the sturge-weber syndrome: a consequence of cerebral folic acid deficiency?Cerebral cortical calcification identical to that of the sturge-weber syndrome was observed in two children. In one child the calcification appeared after intrathecal administration of methotrexate and skull irradiation because of leukemia involving the central nervous system. In the other child, who had coeliac disease and epilepsy, the calcification appeared after treatment with anticonvulsants. This treatment was also contributing to the development of profound megaloblastic anemia. The unspecificity of the Sturge-Weber calcification is stressed and the hypothesis is put forward that the calcification may be secondary to folic acid deficiency interfering with the matabolism in the central nervous system.- - - - - - - - - - ranking = 3.1135604875898keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/34. Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of sturge-weber syndrome.BACKGROUND: li-fraumeni syndrome (LFS) is characterized by a plethora of cancers, most prominent of which is carcinoma of the breast followed by sarcomas, brain tumors, leukemia, lymphoma, lung carcinoma, and adrenocortical carcinoma (therefore, also referred to by the acronym SBLA syndrome). methods: The family reported herein was first described 2 decades ago. Now extensive follow-up has shown the predictable occurrence of these tumor types, in addition to an excess of brain tumors and the finding of sturge-weber syndrome (SWS) in an LFS-affected family member. RESULTS: A possible new feature of the disorder, suggestive of SWS, was identified in a patient in the direct genetic lineage. This patient had a rhabdomyosarcoma of the eyelid at age 29 months and at age 14 years was diagnosed with lymphoblastic lymphoma/acute lymphoblastic leukemia. A remarkable excess of brain tumors was identified in this family through this current update. The p53 germ-line mutation was not identified in any affected member of this family. CONCLUSIONS: To the authors' knowledge, this is the first example of SWS in the context of LFS. brain tumors appear to be an important component of the tumor spectrum of LFS, as evidenced in this family.- - - - - - - - - - ranking = 7keywords = brain (Clic here for more details about this article) |
4/34. Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere.sturge-weber syndrome was diagnosed in a neonate on basis of a characteristic port-wine stain. In the absence of any acute neurologic episode, MR images obtained when the infant was aged 3 months showed a typical pial vascular dysplasia, as well as prominent hypotrophy of the homolateral hemisphere. Areas suggesting the presence of developmental dysplasia of the cerebral mantel were found in association with the typical pial vascular anomaly. The prenatal effect of Sturge-Weber disease on normal brain development may best be explored by using a better evaluation with cerebral imaging shortly after birth.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
5/34. sturge-weber syndrome involved frontoparietal region without facial nevus.Classic sturge-weber syndrome is characterized by a facial nevus and hamartomatous lesion in the brain. Hamartomatous lesions are usually located in the ipsilateral occipital region of the facial nevus. The other lobes may be involved. A few cases of sturge-weber syndrome without facial nevus have been reported. A 9-month-old male was admitted with the complaint of afebrile seizures two times. We observed the third seizure, which was complex partial, in the clinic. There was no facial hemangioma. On computed tomography and magnetic resonance imaging of the brain we observed findings concordant with the angioma in the right frontoparietal region, although the occipital region was intact. This patient appears to be the first with sturge-weber syndrome without facial nevus, and with involvement of the frontoparietal region but not the occipital region. We do not know the embryologic basis of this association.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
6/34. Transient focal leptomeningeal enhancement in sturge-weber syndrome.The authors describe a 36-year-old man with sturge-weber syndrome who presented with focal seizures and subsequently developed a temporary post-ictal hemianopia. magnetic resonance imaging of the brain demonstrated focal leptomeningeal enhancement, which subsequently resolved.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/34. The value of the brain scan and cerebral arteriogram in the sturge-weber syndrome.In a series of eight patients with the sturge-weber syndrome, the brain scan was shown to be the most accurate, non-invasive, diagnostic test, being abnormal in all eight patients. In four cases examined by cerebral arteriography, this study was also conspicuously abnormal. Some of the neurological disturbances occurring in these patients are more likely to be due to transient ischaemic attacks and cerebral infarctions than to epilepsy.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
8/34. Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of sturge-weber syndrome variants?We report two cases of leptomeningeal angiomatosis in atypical frontoparietotemporal locations without an associated facial port-wine stain. Evidence of a leptomeningeal angioma was found in each when they were evaluated for headaches and seizures. The diagnosis of a leptomeningeal angioma was suggested by calcifications noted on computed tomographic scan of the head and confirmed with contrast-enhanced magnetic resonance images of the brain. We hypothesize that given the lack of occipital involvement with the angioma, and therefore the noncontiguous nature of this lesion with the developing upper facial ectoderm, the failure to develop a facial angioma would be expected. We found that the useof an anticonvulsant along with a migraine prophylactic medication appeared to have the greatest efficacy in these two cases, whereas anticonvulsants alone were less helpful. This diagnosis should be considered in any child presenting with seizures or complicated migraines and intracranial calcifications.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/34. Left-sided facial nevus with contralateral leptomeningeal angiomatosis in a child with sturge-weber syndrome: case report.sturge-weber syndrome is characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Variants of this classical presentation have been described in the literature, some of which have prognostic significance. We report a magnetic resonance imaging (MRI)-confirmed variant of a leptomeningeal angioma contralateral to the facial nevus. We describe one patient with sturge-weber syndrome who presented with a left-sided facial nevus, left eye glaucoma, episodes of left-sided weakness, and right-sided leptomeningeal angiomatosis by gadolinium-enhanced brain MRI. The literature regarding variants of sturge-weber syndrome and their prognosis is reviewed. The prognosis for this variant is likely similar to sturge-weber syndrome with an ipsilateral leptomeningeal angioma.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
10/34. Klippel-Trenaunay syndrome and sturge-weber syndrome: variations on a theme?We describe a patient with a complex neurocutaneous syndrome of congenital vascular malformations, abnormalities of brain and bones, and soft tissue hypertrophy of one leg. According to eponymous classification schemes, the patient can be assigned to two different clinical entities. Using the lethal gene theory it is possible to unify these different syndromes and to explain the overlap and diversity of these congenital vascular syndromes. We argue that it is better to describe such vascular malformation syndromes in anatomical/histological or functional terms and map the extent of the disease, rather than name it according to the eponymous classification.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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